A case of novel NFKB2 variant with hypertensive emergency and nephrotic syndrome leading to CKD 5D
Nuclear factor kappa B (NF-κB) family plays a central role in the human immune system. Heterozygous variants in NFKB2 typically cause immunodeficiency with various degrees of central adrenal insufficiency, autoimmunity, and ectodermal dysplasia. No reported case has presented kidney failure as an in...
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Veröffentlicht in: | Pediatric nephrology (Berlin, West) West), 2024-09, Vol.39 (9), p.2637-2640 |
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Sprache: | eng |
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Zusammenfassung: | Nuclear factor kappa B (NF-κB) family plays a central role in the human immune system. Heterozygous variants in
NFKB2
typically cause immunodeficiency with various degrees of central adrenal insufficiency, autoimmunity, and ectodermal dysplasia. No reported case has presented kidney failure as an initial symptom. Moreover, documentation of kidney involvement of this disease is limited.
Case diagnosis
A 2-year-old female who presented with dyspnea and hypertensive emergency in the setting of new-onset nephrotic syndrome with acute-on chronic kidney injury with resultant chronic kidney disease (CKD) was found to have a novel heterozygous N-terminal variant in
NFKB2
(c.880del: p. Tyr294Ilefs*4) with mild hypogammaglobulinemia, but no adrenal insufficiency or ectodermal dysplasia. She became dialysis-dependent during her initial hospitalization and developed CKD stage 5D, requiring continued peritoneal dialysis. She is currently awaiting kidney transplantation.
Conclusions
Whether nephrotic syndrome or kidney injury or failure is the primary symptom of this variant or secondary to some event remains unknown. Further case accumulation is warranted. |
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ISSN: | 0931-041X 1432-198X 1432-198X |
DOI: | 10.1007/s00467-024-06334-4 |